Product Details

SNP ID
rs199554116
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17202816 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGCAAGTTCTGTGCCATGAAAGC[A/T]ATCTCCCTCCAGCTCTGGAGACAGG
Phenotype
MIM: 607273 MIM: 614960
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
FLCN PubMed Links

Gene Details

Gene
FLCN
Gene Name
folliculin
There are no transcripts associated with this gene.

Gene
PLD6
Gene Name
phospholipase D family member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178836.3 756 Nonsense Mutation TAG,TTG *237L NP_849158.2
XM_017024310.1 756 Missense Mutation AGC,TGC S236C XP_016879799.1

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